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Multiomics dissection of human RAG deficiency reveals distinctive patterns of immune dysregulation but a common inflammatory signature.
Sci Immunol
January 2025
Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.
Human recombination-activating gene (RAG) deficiency can manifest with distinct clinical and immunological phenotypes. By applying a multiomics approach to a large group of -mutated patients, we aimed at characterizing the immunopathology associated with each phenotype. Although defective T and B cell development is common to all phenotypes, patients with hypomorphic variants can generate T and B cells with signatures of immune dysregulation and produce autoantibodies to a broad range of self-antigens, including type I interferons.
View Article and Find Full Text PDFOrgan-specific malperfusion in acute type A aortic dissection: epidemiological meta-analysis of incidence rates.
BJS Open
December 2024
Department of Cardiothoracic Surgery, Liverpool Heart and Chest Hospital, Liverpool, UK.
Background: Acute type A aortic dissection is a life-threatening clinical emergency that necessitates immediate surgical intervention with an estimated mortality rate of approximately 1-2% per hour. When complicated by malperfusion, the perioperative mortality rate is reported to be increased by up to 39%. Malperfusion can affect many vascular beds with varying incidence and severity, resulting in coronary, cerebral, visceral, peripheral, renal or spinal malperfusion.
View Article and Find Full Text PDFMorphometric and Morphological Study of Thoracic and Lumbar Intervertebral Discs in Guinea Pigs (Cavia porcellus).
Anat Histol Embryol
January 2025
Department of Surgery and Radiology, Faculty of Veterinary Medicine, University of Tehran, Tehran, Iran.
This study investigates the gross morphological and morphometric characteristics of thoracic and lumbar intervertebral discs (IVDs) in guinea pigs, utilising micro-CT imaging and anatomical dissection. The findings reveal 13 thoracic and six lumbar IVDs were identified, with thoracic discs transitioning from rounded forms at T1-T3 to triangular and heart-shaped structures at T4-T13, while lumbar IVDs exhibited a consistently flattened heart shape. Morphometric analysis revealed statistically significant differences, with lumbar IVDs being larger in lateral and dorsoventral width, disc area, annulus fibrosus (AF) area and nucleus pulposus (NP) area, and ventral height compared to thoracic discs.
View Article and Find Full Text PDFArch Bare Metal Stent Grafting in Type I Aortic Dissections After Hemiarch Repair.
Ann Thorac Surg Short Rep
December 2024
Division of Cardiac Surgery, Inova Heart and Vascular Institute, Inova Health Systems, Falls Church, Virginia.
Background: DeBakey type I aortic dissections (AD) are most frequently treated with hemiarch repair. A subset of patients demonstrates persistent distal end-organ ischemia secondary to persistent true lumen (TL) compression. We describe the use of bare metal stent grafting across the residual arch dissection with the Zenith Dissection Endovascular Stent (ZDES, Cook Medical) in 7 patients with type I AD that was repaired in a hemiarch configuration with a compromised distal TL and organ malperfusion.
View Article and Find Full Text PDFAortopathy in repaired tetralogy of Fallot and David procedure.
Cardiovasc Diagn Ther
December 2024
Department of Cardiology, St. Luke's International Hospital, Tokyo, Japan.
Tetralogy of Fallot (TOF) is a condition that often leads to long-term enlargement of the aortic root in after surgery. The aortic dilation is believed to be caused by histological abnormalities of the aortic media and the hemodynamic characteristics of increased aortic flow, compared to pulmonary flow. Severe cyanosis, severe right ventricular outflow tract (RVOT) obstruction, older age at repair, a larger aortic size at the time of repair, and a history of an aortopulmonary shunt parameters related to long-standing volume overload of the aortic root were the reported risk factors.
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